Canonical Allele Identifier: CA9972547

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64032056C>G , CM000682.2:g.64032056C>G	GRCh38
NC_000020.10:g.62663409C>G , CM000682.1:g.62663409C>G	GRCh37
NC_000020.9:g.62133853C>G	NCBI36
NG_029719.1:g.55979C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.2673+12C>G (PRPF6) MANE Select	NP_036601.2:n.2673+12C>G
ENST00000266079.5:c.2673+12C>G (PRPF6) MANE Select	ENSP00000266079.4:n.2673+12C>G
NM_012469.3:c.2673+12C>G (PRPF6)	NP_036601.2:n.2673+12C>G
ENST00000217130.4:c.-7+6483G>C (ZNF512B)	ENSP00000217130.3:n.-7+6483G>C
ENST00000266079.4:c.2673+12C>G (PRPF6)	ENSP00000266079.4:n.2673+12C>G
ENST00000450537.5:c.-6+16649G>C (ZNF512B)	ENSP00000393795.1:n.-6+16649G>C
XM_006723769.2:c.2454+12C>G (PRPF6)	XP_006723832.1:n.2454+12C>G
XM_006723769.3:c.2454+12C>G (PRPF6)	XP_006723832.1:n.2454+12C>G